SPAST c.(?_1729
Pathogenic
Multiple submitters
Classification
Pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
Conditions
1
hereditary spastic paraplegia 4
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- SPAST
- Coding
- c.(?_1729
- MANE Select
- NM_014946
- Type
- Deletion
- Location
- chr2:None (GRCh38)
- Gene constraint
- LOEUF 0.69 · pLI 0.11 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 77.03 · 7 PDB
Disease context
hereditary spastic paraplegia 4 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Autosomal dominant spastic paraplegia type 4 (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Adolescent, Adult, Childhood, Infancy
- Prevalence
- 1-9 / 1 000 000 (Portugal)
Similar variants
- SPAST c.1174-1del Pathogenic ★★ same condition
- SPAST c.1413+3_1413+6del Pathogenic/Likely pathogenic ★★ same condition
- SPAST c.1493+2_1493+5del Pathogenic/Likely pathogenic ★★ same condition
- SPAST p.Ala188fs Pathogenic ★★ same condition
- SPAST p.Ala394fs Pathogenic ★★ same condition
- SPAST p.Ala96fs Pathogenic ★★ same condition
- SPAST p.Gln280fs Pathogenic ★★ same condition
- SPAST p.Glu155fs Pathogenic ★★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/spast-c-1729 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown